The families living under the shadow of no diagnosis

Ten years ago, two sleep deprived and stressed mothers met and bonded over stories of their newborn sons. A tale as old as time. Yet, this tale had a tragic twist. Their connection stemmed from the fact their children stopped breathing out of the blue and no doctor could give them a diagnosis.

Rachel and Emma’s children were amongst 6,000 born in the UK each year with a syndrome without a name – a genetic condition so rare that it is often impossible to diagnose.

Back then, support was scant and professional awareness of undiagnosed syndromes was limited due to genetic testing being in its infancy.

In 2011, the charity Genetic Alliance UK launched SWAN UK with the aim of creating a community to support parents, but also to raise public and professional awareness of undiagnosed genetic conditions and the unique challenges faced by affected families.

No roadmap for families affected by undiagnosed conditions

As part of the tenth anniversary celebrations and to mark its annual Undiagnosed Children’s Day, the charity has been asking families to share their stories.

“The Covid-19 pandemic means that many people have now had a taste of what it’s like to live with the unknown,” says SWAN UK Director of Engagement and Support at Genetic Alliance UK, Lauren Roberts. “Undiagnosed families live with the unknown every day.

“Will my child walk? Will they talk? Will they have a shorter life expectancy? Will future children be affected? These are some of the questions that families who have undiagnosed children don’t have any answers to. They don’t know what the future holds for their children.

“We want to make sure that families affected by undiagnosed conditions aren’t forgotten. We want to let them know that they aren’t alone.”

Half of children with learning disabilities have no definitive diagnosis

It is thought that about half (50%) of children with learning disabilities and approximately 60% of children with congenital disabilities which are apparent from birth do not have a definitive diagnosis to explain the cause of their difficulties.

SWAN UK is the only specialist support network available in the UK for families of children and young adults affected by a syndrome without a name. It works with families of affected children and young adults aged 0–25, providing support and information in hospital, at home and in their local communities.

It offers around-the-clock access to support and information via its members-only online communities, regular opportunities for parents to access face-to-face support as well as running whole family events.

A team of volunteer Parent Reps also work locally to help facilitate the SWAN UK Local Networks, providing on-the-ground support and educating local services and professionals.

“We began as a close knit group of 12 which grew slowly for the first few years before expanding exponentially,” says Rachel in a blog post she wrote for the charity. “For those first years, while the group was small, I would say we knew the ins and outs of each other’s lives. We despaired at our treatment by professionals, at fob offs and condescension. We supported each other through tragic times.

“Our children played, the siblings ran wild – comfortable with each other. These women are friends for life. They get it. No one else can truly understand the emotional rollercoaster of living with the unknown. Or that feeling when the geneticist asks if you and your partner are related.”

Sorry, but we don’t know your diagnosis

A common theme for families supported by SWAN UK is the isolation of seeking a diagnosis. Even though the children have varying needs and difficulties, the online community allows them to share experiences and ask questions.

“Back then, I didn’t know undiagnosed genetic conditions existed,” says Emma who blogs at Little Mamma Murphy. “Back then I was naïve enough to assume that if a child presented with physical or learning difficulties, they would be seen by a doctor who would refer them for further testing. Back then, I assumed those tests would reveal an answer, a cause, a diagnosis.

“But we went to the doctors, we had the tests and the only answer we received was a great, big ‘Don’t Know (but it’s definitely a genetic syndrome of some sort).

“SWAN UK sprung to life as a Facebook group for parents and carers of undiagnosed children in 2011. We were a small, tight-knit bunch of families, spread throughout the UK with children so diverse and with such varying needs it was hard to see what we had in common,” she says. “Yet what united us was the very thing that excluded us from so many other sources of support and information: our lack of diagnosis.”

For Helen, who joined the group in 2012, the online community gave her an identity as her family got to grips with having a child with disabilities. In her shared story she said it gave her back her confidence to be a parent.

“We came across SWAN UK in – it turns out – its infancy, its second year. Alex was somewhere between one and two years old. We were lost. Bereft. Honestly… grieving,” she says.

“We all need to connect with people who have lived our experiences, and in SWAN UK we found everyone we needed. We were asked what we would be celebrating about our child this year for Undiagnosed Children’s Day. It’s really the same as every year. That Alex is Alex.”

Support at the hardest of times when no diagnosis

As genetic testing becomes more advanced, many families have gone on to receive a rare diagnosis but the group has a motto: Once a SWAN, always a SWAN.

A sentiment that Alex and her family will treasure after their son Benjamin passed away earlier this year aged seven.

“Our beautiful boy, our precious gift, our teacher, our comfort and our inspiration, our SWAN, is no longer with us, but we remain a SWAN family,” she says. “His condition is still undiagnosed so we will always celebrate Undiagnosed Children’s Day, and on this special Undiagnosed Children’s Day as SWAN UK hits 10, we’ll happily celebrate and remember all the SWAN families and children we have been honoured to know. We’ll treasure the friendships that blossomed and remember all those who gained their wings far too soon.”

Alex, who writes at The Long Chain, says she joined SWAN UK as navigating an ableist world when your child is disabled is “exhausting, expensive, stressful and soul-destroying”.

She adds: “There are unique challenges that come with having a disability but no diagnosis: genetic testing, genomic testing, the lack of a prognosis, difficulty getting benefits, difficulty getting charitable funding, difficulty getting travel insurance, difficulty explaining your child’s condition to anyone else, difficulty getting anyone to believe what you know about your child, deciding whether or not to try for another child, blaming yourself for your child’s suffering.

“We remain immensely privileged to have had Benjamin in our lives and to share his life with others. We are blessed.”

Can’t do the job alone

Katherine who blogs at Pass the Saltwater says that with the community group it is not just about finding friends, but allies. And amongst these allies are the professionals who help them negotiate this untrodden path.

“I found SWAN UK online, while doing that thing that some doctors disapprove of highly – searching on the internet to try and find out what was going on for my son,” she says.

“I remember counting in my head the number of doctors, nurses, specialist consultants, therapists and support workers that had been involved in our lives as a result of his difficulties since he was born. I was astounded when I got to 46 and was sure that I wasn’t done counting.

“If I have learnt anything in raising a child who has severe disabilities and complex medical issues but with no diagnosis for his condition, it is that I cannot do this alone. It is too big a job.”

To read more family stories and learn more about Undiagnosed Children’s Day visit SWAN UK

Alison Bloomer

Alison Bloomer is Editor of Learning Disability Today. She has over 25 years of experience writing for medical journals and trade publications. Subjects include healthcare, pharmaceuticals, disability, insurance, stock market and emerging technologies. She is also a mother to a gorgeous 13-year-old boy who has a learning disability.

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